【摘要】 目的明确一个罕见黏多糖贮积症Ⅲ型家系的致病原因,并进行产前诊断。方法首先用全外显子测序技术对2019年7月就诊于珠海市妇幼保健院的先证者及其家系成员进行致病突变检测,然后用Sanger测序进行验证,最后抽取羊水,对胎儿进行产前诊断。结果先证者携带SGSH基因c.703G>A(p.Asp235Asn)纯合突变,其父母均为杂合突变携带者,胎儿为杂合突变携带者。结论 SGSH基因c.703G>A(p.Asp 235Asn)突变是该黏多糖贮积症Ⅲ型家系的致病原因,可以根据该突变进行产前诊断,避免该家系再次出生黏多糖贮积症Ⅲ型患儿。更多还原

【Abstract】 Objective To determine the cause of pathogenesis in a rare family of mucopolysaccharidosis typeⅢ and to make prenatal diagnosis. Methods First, the proband and family members who visited Zhuhai Maternal and Child Health Hospital in July 2019 were tested by whole exon sequencing, and then Sanger sequencing was used to verify the mutation. Finally, amniotic fluid was extracted for prenatal diagnosis. Results The proband carried homozygous mutation of SGSH gene c.703 G>A(p.Asp235 Asn), and both of his parents were carriers of heterozygous mutation. The fetus was a carrier of heterozygous mutation. Conclusion The mutation of SGSH gene c.703 G>A(p.Asp235 Asn) is the pathogenic cause of the mucopolysaccharidosis type Ⅲ family. Prenatal diagnosis can be made according to the mutation, in order to avoid the re-birth of mucopolysaccharidosis type Ⅲ children.更多还原